Your browser doesn't support javascript.
Mostrar: 20 | 50 | 100
Resultados 1 - 1 de 1
Filtrar
Mais filtros










Base de dados
Intervalo de ano de publicação
1.
Clin Dysmorphol ; 27(2): 31-35, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29381487

RESUMO

Mandibulofacial dysostosis type Guion-Almeida (MFDGA) is a rare disease entity that results in congenital craniofacial anomalies that are caused by abnormal development of the first and second pharyngeal arches. MFDGA is characterized by malar and mandibular hypoplasia, microcephaly, developmental delay, dysplastic ears, and a distinctive facial appearance. Extracraniofacial malformations include esophageal atresia, congenital heart disease, and radial ray abnormalities. Heterozygous mutations in the elongation factor Tu GTP-binding domain containing 2 (EFTUD2) gene have been shown to result in MFDGA. To date, there have been a total of 108 individuals reported in the literature, of whom 95 patients have a confirmed EFTUD2 mutation. The majority of individuals reported in the literature have been of White ethnic origin. Here, we report two individuals of Asian ancestry with MFDGA, each harboring a novel, pathogenic splice site variant in EFTUD2.


Assuntos
Deficiências do Desenvolvimento/genética , Disostose Mandibulofacial/genética , Fatores de Alongamento de Peptídeos/genética , Ribonucleoproteína Nuclear Pequena U5/genética , Pré-Escolar , Deficiências do Desenvolvimento/fisiopatologia , Feminino , Heterozigoto , Humanos , Lactente , Masculino , Disostose Mandibulofacial/fisiopatologia , Mutação , Isoformas de Proteínas/genética
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA